A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

Anders Børglum, Thomas Balslev, Annette Haagerup, N Birkebaek, Helle Glud Binderup, T A Kruse, Jens Michael Hertz

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a approximately 30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Human Genetics
Vol/bind9
Udgave nummer10
Sider (fra-til)753-7
Antal sider5
ISSN1018-4813
DOI
StatusUdgivet - 2001

Fingeraftryk

Lod Score
Microcephaly
Genetic Heterogeneity
Growth

Citer dette

Børglum, Anders ; Balslev, Thomas ; Haagerup, Annette ; Birkebaek, N ; Binderup, Helle Glud ; Kruse, T A ; Hertz, Jens Michael. / A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. I: European Journal of Human Genetics. 2001 ; Bind 9, Nr. 10. s. 753-7.
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abstract = "Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a approximately 30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.",
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language = "English",
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A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. / Børglum, Anders; Balslev, Thomas; Haagerup, Annette; Birkebaek, N; Binderup, Helle Glud; Kruse, T A; Hertz, Jens Michael.

I: European Journal of Human Genetics, Bind 9, Nr. 10, 2001, s. 753-7.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

AU - Børglum, Anders

AU - Balslev, Thomas

AU - Haagerup, Annette

AU - Birkebaek, N

AU - Binderup, Helle Glud

AU - Kruse, T A

AU - Hertz, Jens Michael

PY - 2001

Y1 - 2001

N2 - Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a approximately 30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.

AB - Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a approximately 30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.

KW - Abnormalities, Multiple

KW - Adolescent

KW - Child

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 18

KW - Consanguinity

KW - Female

KW - Genes, Recessive

KW - Genetic Heterogeneity

KW - Genetic Markers

KW - Growth Disorders

KW - Humans

KW - Intellectual Disability

KW - Lod Score

KW - Male

KW - Microcephaly

KW - Pedigree

KW - Syndrome

U2 - 10.1038/sj.ejhg.5200701

DO - 10.1038/sj.ejhg.5200701

M3 - Journal article

C2 - 11781686

VL - 9

SP - 753

EP - 757

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 10

ER -